False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care von Tandy-Connor, Stephany, Guiltinan, Jenna, Krempely, Kate, LaDuca, Holly, Reineke, Patrick, Gutierrez, Stephanie, Gray, Phillip, Tippin Davis, Brigette

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Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing von Shimelis, Hermela, LaDuca, Holly, Hu, Chunling, Hart, Steven N, Na, Jie, Thomas, Abigail, Akinhanmi, Margaret, Moore, Raymond M, Brauch, Hiltrud, Cox, Angela, Eccles, Diana M, Ewart-Toland, Amanda, Fasching, Peter A, Fostira, Florentia, Garber, Judy, Godwin, Andrew K, Konstantopoulou, Irene, Nevanlinna, Heli, Sharma, Priyanka, Yannoukakos, Drakoulis, Yao, Song, Feng, Bing-Jian, Tippin Davis, Brigette, Lilyquist, Jenna, Pesaran, Tina, Goldgar, David E, Polley, Eric C, Dolinsky, Jill S, Couch, Fergus J

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Validation of a prostate cancer polygenic risk score von Black, Mary H., Li, Shuwei, LaDuca, Holly, Lo, Min‐Tzu, Chen, Jefferey, Hoiness, Robert, Gutierrez, Stephanie, Tippin‐Davis, Brigette, Lu, Hsiao‐Mei, Gielzak, Marta, Wiley, Kathleen, Shi, Zhuqing, Wei, Jun, Zheng, Siqun Lilly, Helfand, Brian T., Isaacs, William, Xu, Jianfeng

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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer von Karam, Rachid, Conner, Blair, LaDuca, Holly, McGoldrick, Kelly, Krempely, Kate, Richardson, Marcy E., Zimmermann, Heather, Gutierrez, Stephanie, Reineke, Patrick, Hoang, Lily, Allen, Kyle, Yussuf, Amal, Farber-Katz, Suzette, Rana, Huma Q., Culver, Samantha, Lee, John, Nashed, Sarah, Toppmeyer, Deborah, Collins, Debra, Haynes, Ginger, Pesaran, Tina, Dolinsky, Jill S., Tippin Davis, Brigette, Elliott, Aaron, Chao, Elizabeth

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Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay von Farber-Katz, Suzette, Hsuan, Vickie, Wu, Sitao, Landrith, Tyler, Vuong, Huy, Xu, Dong, Li, Bing, Hoo, Jayne, Lam, Stephanie, Nashed, Sarah, Toppmeyer, Deborah, Gray, Phillip, Haynes, Ginger, Lu, Hsiao-Mei, Elliott, Aaron, Tippin Davis, Brigette, Karam, Rachid

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Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions von Farwell, Kelly D., Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Tippin Davis, Brigette, Baxter, Ruth M., Zeng, Wenqi, Mroske, Cameron, Parra, Melissa C., Gandomi, Stephanie K., Lu, Ira, Li, Xiang, Lu, Hong, Lu, Hsiao-Mei, Salvador, David, Ruble, David, Lao, Monica, Fischbach, Soren, Wen, Jennifer, Lee, Shela, Elliott, Aaron, Dunlop, Charles L.M., Tang, Sha

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Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls von Lilyquist, Jenna, LaDuca, Holly, Polley, Eric, Davis, Brigette Tippin, Shimelis, Hermela, Hu, Chunling, Hart, Steven N., Dolinsky, Jill S., Couch, Fergus J., Goldgar, David E.

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A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk pa... von LaDuca, Holly, Polley, Eric C., Yussuf, Amal, Hoang, Lily, Gutierrez, Stephanie, Hart, Steven N., Yadav, Siddhartha, Hu, Chunling, Na, Jie, Goldgar, David E., Fulk, Kelly, Smith, Laura Panos, Horton, Carolyn, Profato, Jessica, Pesaran, Tina, Gau, Chia-Ling, Pronold, Melissa, Davis, Brigette Tippin, Chao, Elizabeth C., Couch, Fergus J., Dolinsky, Jill S.

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Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer von Yadav, Siddhartha, LaDuca, Holly, Polley, Eric C, Hu, Chunling, Niguidula, Nancy, Shimelis, Hermela, Lilyquist, Jenna, Na, Jie, Lee, Kun Y, Gutierrez, Stephanie, Yussuf, Amal, Hart, Steven N, Davis, Brigette Tippin, Chao, Elizabeth C, Pesaran, Tina, Goldgar, David E, Dolinsky, Jill S, Couch, Fergus J

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Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical von Tandy-Connor, Stephany, Krempely, Kate, Pesaran, Tina, LaDuca, Holly, Guiltinan, Jenna, Davis, Brigette Tippin

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Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease von Capuano, Alessandra, Bucciotti, Francesco, Farwell, Kelly D., Tippin Davis, Brigette, Mroske, Cameron, Hulick, Peter J., Weissman, Scott M., Gao, Qingshen, Spessotto, Paola, Colombatti, Alfonso, Doliana, Roberto

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Prevalence of Germline Mutations in Consecutive, Unselected Patients with Newly Diagnosed Adenocarcinoma of the Pancreas von Brand, Randall, Tung, Nadine, Dudley, Beth, Karloski, Eve, Peters, Mary Linton B, Stobie, Lindsey, Borazanci, Erkut, Moser, A.J, Colvin, Arlene, Lim, Cynthia, Hogg, Melissa E, Lee, Kenneth, Wallis Marsh, J, Tsung, Allan, Zeh, Herbert J, Zureikat, Amer H, Grosvenor, Courtney, Davis, Brigette Tippin T, LaDuca, Holly, Dolinsky, Jill, Dalton, Emily, Black, Mary Helen, Speare, Virginia

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Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process von Salvador, Monalyn U, Truelson, Melissa R F, Mason, Carla, Souders, Beth, LaDuca, Holly, Dougall, Brittany, Black, Mary Helen, Fulk, Kelly, Profato, Jessica, Gutierrez, Stephanie, Jasperson, Kory, Tippin-Davis, Brigette, Lu, Hsiao-Mei, Gray, Phillip, Shah, Swati, Chao, Elizabeth C, Ghahramani, Negar, Landsverk, Megan, Gau, Chia-Ling, Chen, Daniel, Pronold, Melissa

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Polygenic risk score for breast cancer in high-risk women von Black, Mary Helen, Li, Shuwei, LaDuca, Holly, Chen, Jefferey, Hoiness, Robert, Gutierrez, Stephanie, Lu, Hsiao-Mei, Dolinsky, Jill S., Xu, Jianfeng, Vachon, Celine, Couch, Fergus, Tippin Davis, Brigette

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Racial and ethnic differences in the results of multigene panel testing of inherited cancer predisposition genes in breast cancer patients von Yadav, Siddhartha, LaDuca, Holly, Polley, Eric, Shimelis, Hermela, Niguidula, Nancy, Hu, Chunling, Lilyquist, Jenna, Lee, Kun, Gutierrez, Stephanie, Yussuf, Amal, Hart, Steven, Tippin Davis, Brigette, Chao, Elizabeth, Pesaran, Tina, Goldgar, David, Dolinsky, Jill S., Couch, Fergus

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Genetic counseling processes and outcomes among prostate cancer patients (ProGen) von Vatnick, Donna Rachel, Aktar, Sandjida, Stopfer, Jill E., Kipnis, Lindsay, Culver, Samantha K., Koeller, Diane R., Husband, Alexander E., Allen, Kyle, Kilbridge, Kerry L., McGregor, Bradley Alexander, Sweeney, Christopher, Speare, Virginia, Tippin Davis, Brigette, Dolinsky, Jill S., Garber, Judy Ellen, Rana, Huma Q., Taplin, Mary-Ellen, Pomerantz, Mark

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DIAGNOSTIC EXOME SEQUENCING IN PEDIATRIC PATIENTS WITH CONGENITAL HEART DISEASE von Powis, Zoe, Thrush, Devon, Davis, Brigette Tippin, Dolinsky, Jill S

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Abstract 4286: What have we learned from pancreatic cancer patients undergoing multigene panel testing von LaDuca, Holly, Hu, Chunling, Shimelis, Hermela, Polley, Eric, Lilyquist, Jenna, Black, Mary Helen, Davis, Brigette Tippin, Goldgar, David E., Dolinsky, Jill, Couch, Fergus J.

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Molecular diagnosis for neurodevelopmental disorders-an overview of multi-gene panels and whole exome sequencing (P3.211) von Wang, Jing, Powis, Zoe, Yussuf, Amal, Tinker, Jade, Newman, Heather, Carter, Tiffiney, Smith, Erica, Lassiter, Rhonda, Ichikawa, Shoji, Ghahramani, Negar, Dadgar, Sherry, Davis, Brigette Tippin, Bergner, Amanda

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BRAT1 mutations present with a spectrum of clinical severity von Srivastava, Siddharth, Olson, Heather E., Cohen, Julie S., Gubbels, Cynthia S., Lincoln, Sharyn, Davis, Brigette Tippin, Shahmirzadi, Layla, Gupta, Siddharth, Picker, Jonathan, Yu, Timothy W., Miller, David T., Soul, Janet S., Poretti, Andrea, Naidu, SakkuBai

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